Definition of "Prader-Willi syndrome"

Last modified: 16 hours



Prader-Willi syndrome is a rare genetic disorder in which 7 genes on chromosome 15 are deleted/unexpressed on the paternal chromosome. Usually, these genes on the maternal copy is imprinted, and thus silent, thus relying only on the paternal copy.

Sx
  • Low muscle tone
  • Short stature
  • Incomplete sexual development
  • Cognitive disabilities
  • Problem behaviors
  • Chronic feeling of hunger that can lead to excessive eating and life-threatening obesity
Tx
  • Early intervention can reduce obesity to be similar to the typical population
  • Behavioral therapy

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Definition of Prader-Willi syndrome | Autoprac


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